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Background  Human reproductive disorders consist of frequently occurring dysfunctions including a broad range of phenotypes affecting fertility and women’s health during pregnancy. Several female-related diseases have been associated with hypofertility/infertility phenotypes, such as recurrent pregnancy loss (RPL). Other occurring diseases may be life-threatening for the mother and foetus, such as preeclampsia (PE) and intra-uterine growth restriction (IUGR). FOXD1 was defined as a major molecule involved in embryo implantation in mice and humans by regulating endometrial/placental genes.  FOXD1  mutations in human species have been functionally linked to RPL’s origin.    Methods   FOXD1  gene mutation screening, in 158 patients affected by PE, IUGR, RPL and repeated implantation failure (RIF), by direct sequencing and bioinformatics analysis. Plasmid constructs including  FOXD1  mutations were used to perform in vitro gene reporter assays.    Results  Nine non-synonymous sequence variants were identified. Functional experiments revealed that p.His267Tyr and p.Arg57del led to disturbances of promoter transcriptional activity ( C3  and  PlGF  genes). The FOXD1 p.Ala356Gly and p.Ile364Met deleterious mutations (previously found in RPL patients) have been identified in the present work in women suffering PE and IUGR.    Conclusions  Our results argue in favour of FOXD1 mutations’ central role in RPL, RIF, IUGR and PE pathogenesis via  C3  and  PlGF  regulation and they describe, for the first time, a functional link between  FOXD1  and implantation/placental diseases.  FOXD1  could therefore be used in clinical environments as a molecular biomarker for these diseases in the near future.    Keywords  Recurrent pregnancy loss, Preeclampsia, Intra-uterine growth restriction, FOXD1    Electronic supplementary material  The online version of this article (10.1186/s10020-019-0104-3) contains supplementary material, which is available to authorized users.

FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia